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Detailed information for vg0205347298:

Variant ID: vg0205347298 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5347298
Reference Allele: AGAlternative Allele: AGG,AGGGG,A,AGGG,AGGGGG
Primary Allele: AGSecondary Allele: AGG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGCACCACGCGGATCGATCGATCGAATCGAATCGACCCCAAGAAAAAAACAAAAAAAAGAAAAAGAAGCCCACAGATCAAACGGGTCACCCACAAACTCA[AG/AGG,AGGGG,A,AGGG,AGGGGG]
GGGGGGGGTGGAATCAGGCAGGGGGAGCAAGAGGGCAAACCCTAACCCTGGTCGCGGCGGCGGCGGAGGCCGAGGCGGCGGTGGCGGAGGAGGCGTGCGG

Reverse complement sequence

CCGCACGCCTCCTCCGCCACCGCCGCCTCGGCCTCCGCCGCCGCCGCGACCAGGGTTAGGGTTTGCCCTCTTGCTCCCCCTGCCTGATTCCACCCCCCCC[CT/CCT,CCCCT,T,CCCT,CCCCCT]
TGAGTTTGTGGGTGACCCGTTTGATCTGTGGGCTTCTTTTTCTTTTTTTTGTTTTTTTCTTGGGGTCGATTCGATTCGATCGATCGATCCGCGTGGTGCT

Allele Frequencies:

Populations Population SizeFrequency of AG(primary allele) Frequency of AGG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 28.40% 12.90% 44.79% 6.05% A: 3.87%; AGGG: 3.09%; AGGGG: 0.80%; AGGGGG: 0.13%
All Indica  2759 20.20% 15.80% 52.95% 3.55% AGGG: 4.20%; A: 2.17%; AGGGG: 0.98%; AGGGGG: 0.18%
All Japonica  1512 31.90% 8.90% 38.69% 12.24% A: 5.69%; AGGG: 1.85%; AGGGG: 0.66%
Aus  269 77.70% 5.90% 3.35% 0.00% A: 13.01%
Indica I  595 4.90% 9.40% 71.09% 6.05% A: 5.38%; AGGG: 2.02%; AGGGG: 1.01%; AGGGGG: 0.17%
Indica II  465 35.70% 12.00% 44.73% 4.30% AGGG: 2.37%; AGGGG: 0.65%; A: 0.22%
Indica III  913 20.40% 24.80% 43.15% 2.08% AGGG: 6.24%; A: 2.19%; AGGGG: 1.10%; AGGGGG: 0.11%
Indica Intermediate  786 22.30% 12.50% 55.47% 2.93% AGGG: 4.58%; AGGGG: 1.02%; A: 0.89%; AGGGGG: 0.38%
Temperate Japonica  767 21.50% 7.60% 51.37% 15.91% AGGG: 1.69%; AGGGG: 1.17%; A: 0.78%
Tropical Japonica  504 48.60% 9.50% 21.03% 5.75% A: 14.29%; AGGG: 0.79%
Japonica Intermediate  241 30.30% 12.00% 35.27% 14.11% AGGG: 4.56%; A: 3.32%; AGGGG: 0.41%
VI/Aromatic  96 54.20% 16.70% 26.04% 0.00% AGGG: 2.08%; AGGGGG: 1.04%
Intermediate  90 45.60% 6.70% 41.11% 3.33% A: 2.22%; AGGGG: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0205347298 AG -> A LOC_Os02g10210.1 upstream_gene_variant ; 1421.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> A LOC_Os02g10220.1 upstream_gene_variant ; 4168.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> A LOC_Os02g10190.1 downstream_gene_variant ; 2781.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> A LOC_Os02g10200.1 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> A LOC_Os02g10200.2 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> DEL N N silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGG LOC_Os02g10210.1 upstream_gene_variant ; 1420.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGG LOC_Os02g10220.1 upstream_gene_variant ; 4167.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGG LOC_Os02g10190.1 downstream_gene_variant ; 2782.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGG LOC_Os02g10200.1 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGG LOC_Os02g10200.2 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGGG LOC_Os02g10210.1 upstream_gene_variant ; 1420.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGGG LOC_Os02g10220.1 upstream_gene_variant ; 4167.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGGG LOC_Os02g10190.1 downstream_gene_variant ; 2782.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGGG LOC_Os02g10200.1 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGGGG LOC_Os02g10200.2 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGG LOC_Os02g10210.1 upstream_gene_variant ; 1420.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGG LOC_Os02g10220.1 upstream_gene_variant ; 4167.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGG LOC_Os02g10190.1 downstream_gene_variant ; 2782.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGG LOC_Os02g10200.1 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGG LOC_Os02g10200.2 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGG LOC_Os02g10210.1 upstream_gene_variant ; 1420.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGG LOC_Os02g10220.1 upstream_gene_variant ; 4167.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGG LOC_Os02g10190.1 downstream_gene_variant ; 2782.0bp to feature; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGG LOC_Os02g10200.1 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N
vg0205347298 AG -> AGGG LOC_Os02g10200.2 intron_variant ; MODIFIER silent_mutation Average:97.971; most accessible tissue: Zhenshan97 flower, score: 98.855 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0205347298 AG A 0.02 0.0 0.0 -0.04 -0.02 -0.03
vg0205347298 AG AGG -0.01 -0.04 -0.04 0.01 -0.02 -0.01
vg0205347298 AG AGGG 0.0 -0.01 -0.01 0.03 0.0 0.02
vg0205347298 AG AGGGG 0.0 0.02 0.0 0.05 0.02 0.02
vg0205347298 AG AGGGG* -0.04 -0.02 -0.05 0.02 -0.02 -0.03